IthaID: 3215
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --Braz | HGVS Name: | NC_000016.10:g.(167305_169853)_(239884_271794)del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion spans 70 to approximately 105 kb on the α-globin gene cluster (positions 169843-239896 according to the UCSC Genome Browser, March 2006) removing both of the duplicated α-globin genes and contiguous LUC7L and ITFG3 genes. The 5' breakpoint region lies between the HBA1P and HBA2 genes, while the 3' breakpoint is between the ITFG3 and RGS11 genes. This deletion was detected in a Bazilian child of mixed ethnic origin (European and African) with HbH disease.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | 70 kb |
| Deletion involves: | α2, α1 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Brazilian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- Mota NO, Kimura EM, Ferreira RD, Albuquerque DM, Ribeiro DM, Santos MN, Costa FF, Sonati MF, A novel α(0) -thalassemia deletion in a Brazilian child with Hb H disease [--((Braz)) ]., Int J Lab Hematol , 2017 PubMed
Created on 2017-04-02 18:01:56,
Last reviewed on 2018-01-10 17:33:59 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2017-04-02 18:01:56 | The IthaGenes Curation Team | Created |
| 2 | 2017-04-02 18:04:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2017-04-05 12:44:19 | The IthaGenes Curation Team | Reviewed. Location modified. |
| 4 | 2018-01-10 17:33:59 | The IthaGenes Curation Team | Reviewed. Deletion breakpoint added. |
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IthaGenes was last updated on 2024-09-05 13:01:20